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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Bfsp2 and cataract in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Conley YP, etal., Am J Hum Genet. 2000 Apr;66(4):1426-31. Epub 2000 Mar 22.
  • The annotation has been inferred from sequence orthology with BFSP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 additional annotations were made from Conley YP, etal., Am J Hum Genet. 2000 Apr;66(4):1426-31. Epub 2000 Mar 22.
  • 446 RGD objects have been annotated to cataract  (DOID:83)
  • 6 papers in RGD have been used to annotate Bfsp2
  • Qualifier: susceptibility
  • Curation Notes: protein:missense mutation:exon:p.R287W (human)


    • An association has been curated linking Bfsp2 and cataract in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with BFSP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 446 RGD objects have been annotated to cataract  (DOID:83)
  • 6 papers in RGD have been used to annotate Bfsp2
  • Curation Notes: ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Congenital cataract
  • Original References(s): PMID:25741868


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